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Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical case

dc.contributor.authorSilva, Cláudia Teles
dc.contributor.authorMadureira, Cristina
dc.contributor.authorMelo, Cláudia
dc.contributor.authorMartins, Cecília
dc.contributor.authorCardoso, Raquel
dc.contributor.authorMiguel, Cristina
dc.date.accessioned2025-05-30T09:48:47Z
dc.date.available2025-05-30T09:48:47Z
dc.date.issued2018-12-31
dc.description.abstractIntroduction: Congenital myotonic dystrophy type 1 (DM1) is characterized by hypotonia and severe general weakness at birth, often with respiratory distress and even death. Clinical report:A newborn male with prenatal diagnosis of ventriculomegaly and polyhydramnios was born at 39 weeks of gestation with no immediate occurrences and a maternal family history of two cases with unspecified neuromuscular conditions. The newborn was admitted in the second day of life due to feeding problems and desaturation episodes, presenting with hypotonia, non-vigorous crying, facial diplegia, and arthrogryposis of the lower limbs. A genetic study for myotonic dystrophy was requested, which revealed cytosine thiamine and guanine (CTG) expansion in the DMPK gene (1100−1400 repeats), confirming diagnosis of congenital DM1. Discussion and conclusions: Despite the presence of congenital DM1, this newborn presents with a milder phenotype than expected for the condition. Symptom recognition, combined with family history, allowed an early diagnosis and adequate follow-up.eng
dc.description.abstractIntrodução: A distrofia miotónica tipo 1 (DM1) congénita caracteriza-se por hipotonia e fraqueza generalizada grave ao nascimento. Frequentemente, apresenta-se com insuficiência respiratória, podendo ser fatal. Caso Clínico: Um recém-nascido do sexo masculino, com diagnóstico pré-natal de ventriculomegalia e polihidrâmnio, nasceu às 39 semanas sem intercorrências. Dos antecedentes familiares, destacam-se dois elementos da linhagem materna com doença neuromuscular não esclarecida. O recém-nascido foi internado no segundo dia de vida devido a dificuldades alimentares e episódios de dessaturação, apresentando hipotonia, choro pouco vigoroso, diplegia facial e artrogripose dos membros inferiores. Foi solicitado estudo genético de distrofia miotónica, que revelou expansão de citosina, tiamina e guanina (CTG) no gene DMPK (1100−1400 repetições), confirmando o diagnóstico de DM1 congénita. Discussão e conclusões: Apesar de se tratar de um caso de DM1 congénita, este recém-nascido apresenta um quadro menos grave do que o expectável. O reconhecimento da sintomatologia, aliado à história familiar, permitiu estabelecer um diagnóstico atempado e um plano de seguimento adequado.por
dc.identifier.citationSilva CT, Madureira C, Melo C, Martins C, Cardoso R, Miguel C. Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical case. REVNEC [Internet]. 2019;27(4):246-8. Available from: https://revistas.rcaap.pt/nascercrescer/article/view/12046
dc.identifier.doi10.25753/BirthGrowthMJ.v27.i4.12046
dc.identifier.eissn2183-9417
dc.identifier.urihttp://hdl.handle.net/10400.16/3610
dc.language.isoeng
dc.peerreviewedyes
dc.publisherCentro Hospitalar Universitário do Porto
dc.relation.hasversionhttps://revistas.rcaap.pt/nascercrescer/article/view/12046
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/
dc.subjectCongenital myotonic dystrophy
dc.subjectDMPK gene
dc.subjectHypotonia
dc.subjectSteinert’s disease
dc.titleHypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical casepor
dc.title.alternativeHipotonia e dificuldades alimentares no recém-nascido: um caso de distrofia miotónica tipo 1 congénitapor
dc.typetext
dspace.entity.typePublication
oaire.citation.endPage248
oaire.citation.issue4
oaire.citation.startPage246
oaire.citation.titleNascer e Crescer - Birth and Growth Medical Journal
oaire.citation.volume27
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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